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Skrabl-Baumgartner, A; Plecko, B; Schmidt, WM; König, N; Hershfield, M; Gruber-Sedlmayr, U; Lee-Kirsch, MA.
Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation.
Pediatr Rheumatol Online J. 2017; 15(1):67-67 (- Case Report) [OPEN ACCESS]
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Autor/innen der Med Uni Graz:
Gruber-Sedlmayr Ursula
Plecko Barbara
Skrabl-Baumgartner Andrea

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Plum Analytics:
Number of Figures: 2
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Loss-of-function CECR1 mutations cause polyarteritis nodosa (PAN) with childhood onset, an autoinflammatory disorder without significant signs of autoimmunity. Herein we describe the unusual presentation of an autoimmune phenotype with constitutive type I interferon activation in siblings with adenosine deaminase 2 (ADA2) deficiency. We describe two siblings with early-onset recurrent strokes, arthritis, oral ulcers, discoid rash, peripheral vascular occlusive disease and high antinuclear antibody titers. Assessment of interferon signatures in blood revealed constitutive type I interferon activation. Aicardi-Goutières syndrome (AGS) was suspected, but no mutation in the known AGS genes were detected. Whole exome sequencing identified compound heterozygosity for a known and a novel mutation in the CECR1 gene. Functional consequences of the mutations were demonstrated by marked reduction in ADA2 catalytic activity. Our findings demonstrate that ADA2 deficiency can cause an unusual autoimmune phenotype extending the phenotypic spectrum of PAN. Constitutive interferon I activation in patient blood suggests a possible role of type I interferon in disease pathogenesis which may have therapeutic implications.
Find related publications in this database (using NLM MeSH Indexing)
Adenosine Deaminase - deficiency
Adenosine Deaminase - genetics
Agammaglobulinemia - complications
Agammaglobulinemia - diagnosis
Agammaglobulinemia - genetics
Child -
Child, Preschool -
Humans -
Infant -
Intercellular Signaling Peptides and Proteins - genetics
Interferon Type I - genetics
Interferon Type I - metabolism
Male -
Mutation -
Pedigree -
Phenotype -
Polyarteritis Nodosa - complications
Polyarteritis Nodosa - genetics
Severe Combined Immunodeficiency - complications
Severe Combined Immunodeficiency - diagnosis
Severe Combined Immunodeficiency - genetics

Find related publications in this database (Keywords)
Adenosine deaminase 2
Systemic lupus erythematosus
Antinuclear antibodies
Interferon signature
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